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1161 ERCC8

1161

ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

protein-coding

Homo sapiens

基因描述

Type Description
Definition ERCC excision repair 8, CSA ubiquitin ligase complex subunit

研究结论

Date Results Publications
2021-04-03 13:38:00 Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome. 32160415
2021-04-03 13:34:00 Integrative genomic analysis implicates ERCC6 and its interaction with ERCC8 in susceptibility to breast cancer. 33277540
2020-10-03 12:53:00 Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability. 32048102
2020-08-13 09:32:00 TCR is initiated by RNAPIIo-bound CSB, which recruits CSA through a newly identified CSA-interaction motif (CIM); once recruited, CSA facilitates the association of UVSSA with stalled RNAPIIo; in addition, UVSSA is the key factor that recruits the TFIIH complex in a manner that is stimulated by CSB and CSA 32355176
2020-05-23 12:47:00 convergent and divergent roles for CSA and CSB in DNA repair and transcription regulation 31546172

名称对应

Type IDs
Synonymous CKN1, CSA, UVSS2
Gene
UniProtKB-ID: ERCC8_HUMAN, B3KPW7_HUMAN, B4DGZ9_HUMAN, A0A0S2Z3L1_HUMAN
UniprotKB: Q13216, B3KPW7, B4DGZ9, A0A0S2Z3L1
UniParc: UPI00017A6F48, UPI000013D5B0, UPI00000729FE, UPI000000D8F8
EMBL: AK294856, AK056931, U28413, KU177979, CR536563, AK314511, AY213194, CH471123, BT020021, BC009793
Ensembl: ENSG00000049167
KO: hsa:1161
Nucleutide sequences
EMBL-CDS: EAW55004.1, AAO21128.1, AAH09793.1, BAG37111.1, AAV38824.1, CAG38800.1, AAA82605.1, BAG51829.1, BAG57960.1, EAW55003.1, ALQ33437.1
Gene_ORFName: hCG_2003063
Ensembl_TRS: ENST00000265038
Protein sequencees
Ensembl_PRO: ENSP00000265038
RefSeq: NP_000073.1, NP_001007234.1, NP_001007235.1, NP_001277214.1
Others
UniRef100: UniRef100_Q13216-2, UniRef100_A0A2J8KKX7, UniRef100_Q13216
UniRef90: UniRef90_Q13216, UniRef90_A0A1S2ZBV0, UniRef90_Q13216-2
UniRef50: UniRef50_A0A672KJ13, UniRef50_Q13216-2, UniRef50_Q13216
UniGene: Hs.435237
CCDS: CCDS3978.1

全选

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